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Congenial lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is characterized by impaired synthesis of all the adrenal steroids including mineralocorticoids, glucocorticoids, and sex steroids (1). Affected individuals are phenotypically female and have severe salt wasting. This disease is especially frequent in the Japanese population (1, 2).  The cause of this disease is the genetic defects of the gene for steroidogenic acute regulatory protein (StAR). So far, more than 20 different mutations in the StAR gene have been found in patients with CLAH from various ethnic groups (1,2,3,4,5). In the present study we analyzed the StAR gene in a 46, XX female patient with CLAH and found one novel mutation.

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia